Mutation News and Research

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Apert's syndrome - new discovery

In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

14 Jul 2008

FDA approves Energex Systems non-drug therapy for HIV research

Energex Systems, Inc. announced today that it has been granted approval from the Federal Food and Drug Administration (FDA) to utilize its experimental HemoModulation therapy in a clinical trial of HIV infected patients. The purpose of the study will be to demonstrate safety and monitor viral load changes in patients who are not yet eligible for antiviral drug therapy.

14 Jul 2008

Compound honokiol, from Magnolias blocks, elusive pathway for cancer growth

A natural compound from magnolia cones blocks a pathway for cancer growth that was previously considered "undruggable," researchers have found.

13 Jul 2008

Pandemic mutations in bird flu revealed

Scientists have discovered how bird flu adapts in patients, offering a new way to monitor the disease and prevent a pandemic, according to research published in the August issue of the Journal of General Virology.

13 Jul 2008

Researchers find six genes that, when mutated, contribute to autism

The hunt for gene mutations that contribute to autism has proceeded slowly, largely because autism encompasses a spectrum of diseases. Just as its symptoms vary widely among individuals, so do the genetic mutations that cause them.

10 Jul 2008

Common mechanisms may underlie autism's diverse mutations

Many of the seemingly disparate mutations recently discovered in autism may share common underlying mechanisms, say researchers supported in part by the National Institute of Mental Health (NIMH), a part of the National Institutes of Health (NIH). The mutations may disrupt specific genes that are vital to the developing brain, and which are turned on and off by experience-triggered neuronal activity.

10 Jul 2008

Advances in RNA research

RNA, the transporter of genetic information within the cell, has emerged from the shadow of DNA to become one of the hottest research areas of molecular biology, with implications for many diseases as well as understanding of evolution. But the field is complex, requiring access to the latest equipment and techniques of imaging, gene expression analysis and bioinformatics, as well as cross-pollination between multiple scientific disciplines.

10 Jul 2008

Researchers measure movements smaller than one-billionth of a meter in ion channels

Each thought or action sends a million electrical signals pulsing through your body. At the heart of the process of generating these electrical impulses is the ion channel.

10 Jul 2008

Researcher develops method for early detection of leukemia relapse

Researchers at the Fred Hutchinson Cancer Research Center have developed a method that allows for the early detection of a common mechanism of resistance on drug treatment for chronic myeloid leukemia.

10 Jul 2008

Novel drug ionophore shows potential for Alzheimer's

Scientists report a remarkable improvement in Alzheimer's transgenic mice following treatment with a new drug. The study, published by Cell Press in the July 10th issue of the journal Neuron, provides the first demonstration that an ionophore, a compound that transports metal ions across cell membranes, can elicit rapid and pronounced improvement in neuropathology and cognitive function in mouse models of Alzheimer's Disease (AD).

10 Jul 2008

An analysis of food's affect on the brain

In addition to helping protect us from heart disease and cancer, a balanced diet and regular exercise can also protect the brain and ward off mental disorders.

9 Jul 2008

Circulating tumor cells can reveal genetic signature of dangerous lung cancers

Using a miniature laboratory-on-a-chip device, a team of investigators at the Massachusetts General Hospital, led by Daniel Haber, M.D., Ph.D., and Mehmet Toner, Ph.D., both members of the MIT-Harvard Center for Cancer Nanotechnology Excellence (CCNE), has developed a method that detects and analyzes the genetic signature of rare tumor cells in the bloodstream.

9 Jul 2008

Young women's breast cancers more aggressive and less responsive to treatment

Young women's breast cancers tend to be more aggressive and less responsive to treatment than the cancers that arise in older women, and researchers at the Duke Comprehensive Cancer Center and the Duke Institute for Genome Sciences and Policy may have discovered part of the reason why: young women's breast cancers share unique genomic traits that the cancers in older women do not exhibit.

9 Jul 2008

Enzymes are the way to a virus' 'heart'

The arrival of bluetongue virus (BTV) in the UK last year posed a major threat to the economy and the increasing temperatures of our changing climate mean it is here to stay.

9 Jul 2008

Genetic change in dopamine transporter supports a role for dopamine signaling in ADHD

A genetic change in the dopamine transporter - one of the brain's dopamine-handling proteins - makes it behave as if amphetamine is present and "run backward," Vanderbilt University Medical Center investigators report this week in The Journal of Neuroscience.

9 Jul 2008

Study shows H5N1 virus is adapting each time it infects a human

8 Jul 2008

Specific gene may make women more susceptible to alcoholism

A particular gene variant might make women more susceptible to alcoholism. At least, a study carried out by the Universities of Bonn and Sweden's Karolinska Institute makes this a plausible conclusion.

8 Jul 2008

A paradigm shift for targeted cancer therapy

We already know that recycling benefits our planet; and now new research suggests that the cellular version might be useful for battling cancer.

8 Jul 2008

New method to evaluate variations identified in breast cancer susceptibility genes

Using mouse embryonic stem cells, researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, have developed a new method to evaluate which mutations, or changes, in a gene known to increase breast cancer susceptibility, may lead to cancer. The new test, called a functional assay, is more comprehensive and reliable than most current methods.

7 Jul 2008

Protein thought to promote cancer instead functions as a tumor suppressor

A protein previously thought to promote colorectal cancer instead suppresses the growth of human cancer cells in culture, researchers at UT Southwestern Medical Center have found.

7 Jul 2008